Archives of Disease in Childhood 1995; 72: 457-459

CURRENT TOPIC

Childhood hypertrichosis: diagnosis andmanagement

F AM Baumeister, H P Schwarz, S Stengel-Rutkowski

There is wide variation in the normal pattern ofhair growth. Hypertrichosis, which can bedefined as excessive growth of hair comparedwith that in other subjects of the same age, sex,

and race, must be distinguished from hir-sutism, a term restricted to an androgendependent hair pattern that is characterised byexcessive hair growth on the upper lip, chin,chest, linea alba, thighs, and axillae. Unlikehypertrichosis, unexplained hirsutism in child-hood usually warrants investigation to excludean endocrine cause for the virilisation.

In generalised hypertrichosis there is accen- D&*tuation of facial hair in the frontal, temporal,and preauricular regions. The eyebrows may be Mbushy or confluent. On the back of the trunkthe hair converges on the midline, often form-ing whorls over the spine.1 It may occur as partof a syndrome or metabolic disorder ('sympto-matic hypertrichoses') as opposed to 'congeni- J

tal hypertrichosis' where markedly excessivehair growth is the most prominent feature.

While this review will focus on generalisedhypertrichosis in childhood, it should be notedthat localised hypertrichosis can occur andmay be related to naevi or spina bifida occulta,previous trauma or chemical irritations,2 andin a few inherited conditions such as hairyelbows, hairy ears, hairy nose tip, or hairypalms and soles.3 Figure 1 Ambras' syndrome in a

Reproduced with permrnssion from Bnewborn girl.3aumeister et al.24

Symptomatic hypertrichosis in childhoodASSOCIATION WITH DYSMORPHIC SYNDROMESA characteristic facial appearance in a childwith hypertrichosis may lead to the recognitionof one of a number of dysmorphic syndromes

Dr v HaunerschesChildren's Hospital,University ofMunich,GermanyF A M BaumeisterH P Schwarz

Department ofGenetics, Children'sCentre Munich andUniversity ofMunichInstitute for SocialPaediatrics andChildren's MedicineS Stengel-Rutkowski

Correspondence to:Dr F A M Baumeister, Dr vHaunersches Kinderspitalder Universitfit Miinchen,Lindwurmstral3e 4, D-80337Munchen, Germany.

Syndromes associated with generalised hypertnichosis

Brachmann-de Lange syndrome3 (MIM 122470)Coffin-Siris syndrome3 (MIM 135900)Rubinstein-Taybi syndrome3 (MIM 268600)Seckel's syndrome3 (MIM 210600)Cerebro-oculofacioskeletal syndrome3 (MIM 214150)Gorlin's syndrome3 (MIM 233500)Schinzel Giedion midface retraction syndrome3 (MIM269150)

Barber Say syndrome25Hajdu Cheney syndrome3 (MIM 102500)Weyers' acrofacial-dysostosis syndrome3 (MIM 193530)Osteochondrodysplasia with hypertrichosis3 (MIM 239850)Gingival fibromatosis with hypertrichosis3 (MIM 135400)Amaurosis congenita (cone-rod type) with hypertrichosis3(MIM 204110)

Leprechaunism3 (MIM 147670, 246200)Patterson's syndrome3 (MIM 169170)Seip's syndrome3 (MIM 269700)Partial trisomy 3q syndrome6

(table), for example Brachmann-de Langesyndrome, Coffin-Siris syndrome, Rubinstein-Taybi syndrome, Seckel's syndrome, cerebro-oculofacioskeletal syndrome, Gorlin'ssyndrome, Schinzel Giedion midface retrac-tion syndrome, or Barber Say syndrome.

Association with acro-osteolysis may result indiagnosis of the Hajdu Cheney syndrome orpostaxial polydactyly to diagnosis ofthe Weyers'acrofacial dysostosis syndrome. Hypertrichosisassociated with osteochondrodysplasia or gingi-val fibromatosis may indicate the presence ofother genetic entities. Association with photo-phobia may indicate amaurosis congenita(cone-rod type) with congenital hypertrichosis.

In the newborn hypertrichosis associatedwith markedly reduced subcutaneous fat mayindicate a diagnosis of leprechaunism, a lethalcondition which is also associated with anunusual facial appearance, severe intrauterineand postnatal growth retardation, and hyper-insulinaemia with hyperplasia of the pancreatic

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Baumeister, Schwarz, Stengel-Rutkowski

I. i X!fFigure 2 Ambras' syndrome in a 16year old boy.8Reproduced with permission from Baumeister et al. 24

P cells as a result of an insulin receptor defect.Pseudoleprechaunism (Patterson's syndrome)is also associated with hypertrichosis but is dis-tinguished from leprechaunism by a normalbirth weight, large hands and feet, cutis gyrata,and skeletal anomalies. In Seip's syndromehypertrichosis is associated with lipodystrophy,muscular hypertrophy, increased stature andnon-ketotic insulin resistant diabetes.

ASSOCIATION WITH METABOLIC ORCHROMOSOMAL DISORDERS OR PRENATAL ANDPOSTNATAL DRUG EXPOSUREMetabolic disorders associated with hyper-trichosis include the mucopolysaccharidoses,4GMl-gangliosidosis,4 5 and porphyria.2 Amongthe chromosomal disorders, hypertrichosis ismost prominent in partial trisomy 3q.6Hypertrichosis may also be a feature of patientswith anorexia nervosa.2

Hypertrichosis may result from maternalalcohol abuse in pregnancy,4 as well as prenatalor postnatal exposure to hydantoin4 orminoxidil.7 Treatment with cyclosporin or dia-zoxide also leads to hypertrichosis, as doestreatment with glucocorticoids.

Congenital hypertichosisCongenital hypertrichosis universalis is a veryrare genetic condition in which the whole bodyis covered by excessive fine, light coloured hairthat can reach a considerable length.8 9 Thecondition was erroneously thought to beassociated with increased mortality because thefirst reported case of leprechaunism wasdescribed (and subsequently cited) as congeni-tal hypertrichosis universalis.10-15 To confusematters further, the terms congenital hyper-trichosis universalis, congenital hypertrichosis

lanuginosa, and hypertrichosis lanuginosahave been used synonymously,9 11 12 14 16-23although they cover three different clinicalentities. The three subtypes are believed toresult from mutation of an autosomal domi-nant gene, but differ with regard to the persist-ence and pattern of hypertrichosis, and theassociated anomalies.

In the Ambras' syndrome24 generalisedhypertrichosis is present at birth (fig 1) andpersists for life. The hair is most abundant onthe face, ears, and shoulders (fig 2) and thisbecomes more accentuated with increasingage; this unique pattern allows differentiationfrom the other hypertrichosis syndromes. Ifnot shaved the hair reaches a considerablelength (fig 2). Abnormalities of the teeth,accessory nipples, and hexadactyly may beassociated findings.

Transient congenital hypertrichosis univer-salis is present at birth but disappears duringinfancy and is characterised by generalisedhypertrichosis which spares the face, hands andfeet (fig 3).18 19 22 The condition was associatedwith a neonatal tooth in one report22 and withcongenital glaucoma in another.'9

In persistent hypertrichosis universalisaffected subjects are only slightly hairy atbirth but increasing hairiness occurs ininfancy.9 12 14 16 20 In contrast to Ambras'syndrome, the facial hair is not uniformly dis-tributed but is accentuated in the frontal,temporal, and preauricular regions. No otherassociated abnormalities have been reported.

Management ofhypertrichosisThe need for treatment depends on the degreeofhypertrichosis and the resulting psychosocial

' ....'.'' '.. ,::.

Figure 3 Transient congenital hypertrichosis universalis ina newborn girl.22

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Childhood hypernichosis: diagnosis and management 459

problems. In an excessively hairy newbornearly removal of hair may be necessary becauseof difficulties the family may have in acceptingthe child, leading to social isolation.21 23 24Removal of hair is also needed to allow clean-ing of the nappy area.22

There are several ways of removing hair.Chemical depilatories are effective but repeateduse leads to irritation of the skin and may causecontact dermatitis. Wax epilation or depilatoryplasters are painful and remove fine vellus hairwhich may induce transformation to coarse ter-minal hair, giving the impression of increasedhairiness.2 Electrolytic destruction of individualhair papillae removes some hair permanentlybut up to 30% ofthe hair papillae treated in anyone session regrow.2 There is also a risk ofscarring after destruction of the deep dermalpapillae. For these reasons electrolysis cannotbe recommended in children with generalisedhypertrichoses and repeated shaving remainsthe treatment of choice.9 11 21-24We thank Dr J Sigalas for the photograph in fig 1 and Dr J WPartridge for permission to reproduce fig 3.

1 Barth JH, Wilkinson JD, Dawber RPR. Prepubertal hyper-trichosis: normal or abnormal? Arch Dis Child 1988; 63:666-8.

2 Braun-Falco 0, Plewig G, Wolff HH, Winkelmann RK.Dermatology. Berlin: Springer-Verlag, 1991.

3 Mc Kusick VA. Mendelian inheritance in man: catalogs ofautosomal dominant, autosomal recessive andX-linkedpheno-types. 10th Ed. Baltimore: The John Hopkins UniversityPress, 1992.

4 Bankier A, Ayme S, Sillence DO, Kozlowski K, Rogers M.POSSUM (pictures of standard syndromes and undiagnosedmalformations). Melbourne, Australia: Murdoch Institutefor Research into Birth Defects, Royal Children'sHospital, 1991.

5 O'Brien JS. ,B-galactosidase deficiency (GM1 gangliosidosis,galactosialidosis, and Morquio syndrome type B);ganglioside sialidase deficiency (mucolipidosis IV). In:Scriver CR, Beaudet A, Sly WS, Valle D, eds. The meta-bolic basis of inherited disease. New York: McGraw-Hill,1989: 1797-806.

6 Stengel-Rutkowski S, Murken JD, Pilar V, et al. New chro-mosomal dysmorphic syndromes. 3. Partial trisomy 3q.EurJ3 Pediatr 1979; 130: 111-25.

7 Kaler SG, Patrinos ME, Lambert GH, Myers TF, KarlmanR, Anderson CL. Hypertrichosis and congenital anom-alies associated with maternal use of minoxidil. Pediatrics1987; 79: 434-6.

8 Luschan von F. Ein Haarmensch. Zeitschnft Pfir Ethnologie1907; 39: 425-9.

9 Beighton P. Congenital hypertrichosis lanuginosa. ArchDermatol 1970; 101: 669-72.

10 Schachner LA, Hansen RC. Pediatric dermatology.Edinburgh: Churchill Livingstone, 1988.

11 Berres HH, Nitschke R. Vergleichende klinische undmorphologische Untersuchungen zwischen einemNeugeborenen mit Hypertrichosis universalis und gleichal-trigen hautgesunden Kindern. Zeitschriftffir Kinderheikunde1968; 102: 327-40.

12 Felgenhauer WR. Hypertrichosis lanuginosa universalis.J7 Genet Hum 1969; 17: 1-44.

13 Janssen TAE, De Lange C. Familial congenital hypertrichosistotalis (trichostasis). Acta Paediatr 1945; 33: 69-78.

14 Suskind R, Esterly NB. Congenital hypertrichosis univer-salis. In: Bergsma D, ed. Birth defects. Original articleseries.Published for The National Foundation - March ofDimes. Baltimore: Williams and Wilkins, 1971; 8: 103-6.

15 Baumeister FAM. Leprechaunism (Donohue's syndrome)described as familial congenital hypertrichosis totalis. ActaPaediatr 1994; 83: 18.

16 Broster LR. Hypertrichosis a report of three cases. BMJ1950; i: 1171-4.

17 Cockayne EA. Inherited abnormalities of the skin and itsappendages. London: Oxford University Press, 1933.

18 Gardner ALK. A case of hypertrichosis universalis. East AfrMedJ 1964; 41: 345-7.

19 Judge MR, Khaw PT, Rice NSC, Christopher A,Holmstrom G, Harper JI. Congenital hypertrichosislanuginosa and congenital glaucoma. BrJI Dernatol 1991;124: 495-7.

20 Kint AHEE, Vermander FRM, Decroix JMA. KongenitaleHypertrichosis lanuginosa. Der Hautarzt 1985; 36: 423-4.

21 Nowakowski TK, Scholz A. Das Schicksal behaarterMenschen im Wandel der Geschichte. Der Hautarzt 1977;28: 593-9.

22 Partridge JW. Congenital hypertrichosis lanuginosa: neo-natal shaving. Arch Dis Child 1987; 62: 623-5.

23 Sigalas J, Tabakis T, Skordala M, Nouri M. Congenitalhypertrichosis universalis. Pediatrica Chronica 1990; 17:181-5.

24 Baumeister FAM, Egger J, Schildhauer MT, Stengel-Rutkowski S. Ambras syndrome: delineation of a uniquehypertrichosis universalis congenita and association with abalanced pericentric inversion (8) (pl 1.2;q22). Clin Genet1993; 44: 121-8.

25 Martinez-Santana S, Perez-Alvarez F, Frias JL, Martinez-Frias ML. Hypertrichosis, atrophic skin, ectropion, andmacrostomia (Barber-Say syndrome): report of a newcase. Am _rMed Genet 1993; 47: 20-3.

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